P47871
PR
Gene name |
GCGR |
Protein name |
Glucagon receptor |
Names |
GL-R |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2642 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
19 structures for P47871
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2A83 | X-ray | 140 A | C | 412-420 | PDB |
| 3CZF | X-ray | 120 A | C | 412-420 | PDB |
| 4ERS | X-ray | 264 A | A | 28-123 | PDB |
| 4L6R | X-ray | 330 A | A | 123-432 | PDB |
| 4LF3 | X-ray | 274 A | C/F | 29-123 | PDB |
| 5EE7 | X-ray | 250 A | PDB | ||
| 5XEZ | X-ray | 300 A | A/B | 27-432 | PDB |
| 6LMK | EM | 370 A | R | 27-432 | PDB |
| 6LML | EM | 390 A | R | 27-432 | PDB |
| 6WHC | EM | 340 A | R | 1-477 | PDB |
| 6WPW | EM | 310 A | R | 27-477 | PDB |
| 7V35 | EM | 340 A | R | 27-432 | PDB |
| 8FU6 | EM | 290 A | R | 27-477 | PDB |
| 8JIQ | EM | 340 A | R | 27-431 | PDB |
| 8JIT | EM | 291 A | R | 27-431 | PDB |
| 8JIU | EM | 276 A | R | 27-431 | PDB |
| 8JRU | EM | 350 A | R | 27-432 | PDB |
| 8JRV | EM | 330 A | R | 27-432 | PDB |
| AF-P47871-F1 | Predicted | AlphaFoldDB |
402 variants for P47871
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA126242 VAR_003581 RCV000950476 rs1801483 RCV000017542 |
40 | G>S | Type 2 diabetes mellitus no effect on glucagon-elicited cAMP production [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA401492115 rs1219737977 VAR_085613 |
63 | D>N | MVAH [UniProt] | Yes |
ClinGen TOPMed gnomAD UniProt |
| VAR_069815 | 86 | P>S | MVAH; abolishes glucagon binding [UniProt] | Yes | UniProt |
|
CA8842106 VAR_085615 rs371217388 |
225 | R>H | MVAH; when associated in cis with M-368; decreased glucagon binding and decreased glucagon-elicited cAMP production; decreased localization to the cell membrane [UniProt] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt |
|
RCV000727657 RCV001374862 rs1202703638 |
320 | F>missing | GCGR-related hyperglucagonemia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_085616 | 320 | F>del | MVAH; loss of glucagon-elicited cAMP production; no effect on localization to the cell membrane [UniProt] | Yes | UniProt |
|
VAR_085618 CA8842187 rs771824180 |
368 | V>M | Variant assessed as Somatic; 0.0 impact. MVAH; when associated in cis with H-225; decreased glucagon binding and decreased glucagon-elicited cAMP production; no effect on localization to the cell membrane [NCI-TCGA, UniProt] | Yes |
ClinGen ExAC NCI-TCGA TOPMed gnomAD UniProt |
|
CA401488473 rs1374465504 |
2 | P>S | No |
ClinGen gnomAD |
|
|
rs1050897506 CA295097300 |
3 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8841971 rs746335439 |
3 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA401488490 rs746335439 |
3 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1271734930 CA401488573 |
5 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA401488590 rs1227577161 |
6 | P>T | No |
ClinGen TOPMed |
|
|
CA8841972 rs770387110 |
8 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs773994205 CA8841973 |
8 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401488754 rs1233390237 |
9 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1280999107 CA401488725 |
9 | P>S | No |
ClinGen TOPMed |
|
|
CA401488858 rs1568249921 |
13 | L>V | No |
ClinGen Ensembl |
|
|
rs953530197 CA295097339 |
17 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1335228562 CA401489048 |
18 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1054447666 CA295097347 |
19 | C>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 20 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746310016 CA8841998 |
22 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1323911527 CA401490904 |
24 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8841999 rs770131289 |
26 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA295098035 rs1020960200 |
27 | Q>E | No |
ClinGen TOPMed |
|
|
rs747611271 CA8842001 |
29 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480166504 CA401491060 |
30 | D>G | No |
ClinGen gnomAD |
|
|
CA401491049 rs1263930997 |
30 | D>H | No |
ClinGen gnomAD |
|
|
CA401491078 rs1598236171 |
31 | F>L | No |
ClinGen Ensembl |
|
|
CA401491125 rs1568251231 |
33 | F>L | No |
ClinGen Ensembl |
|
|
CA401491173 rs1407252418 |
36 | W>R | No |
ClinGen TOPMed |
|
|
CA401491273 rs1158418305 |
40 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8842003 rs760232106 |
41 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs984272223 CA295098070 |
45 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1364365831 CA401491468 |
48 | S>N | No |
ClinGen gnomAD |
|
|
rs1017028958 CA295098091 |
51 | P>L | No |
ClinGen Ensembl |
|
|
rs1331669976 CA401491553 |
52 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA401491548 rs1331669976 |
52 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA401491589 rs373371585 |
54 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8842004 rs373371585 |
54 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8842019 rs561472081 |
60 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1381720436 CA401492096 |
62 | F>L | No |
ClinGen gnomAD |
|
|
rs1293577571 CA401492108 |
62 | F>Y | No |
ClinGen gnomAD |
|
|
rs1283204989 CA401492128 |
63 | D>A | No |
ClinGen gnomAD |
|
|
rs918559897 CA295099122 |
68 | W>* | No |
ClinGen Ensembl |
|
|
CA401492315 rs1321774988 |
68 | W>* | No |
ClinGen gnomAD |
|
|
CA295099142 rs576194179 |
69 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 71 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780665566 CA8842021 |
71 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs868431560 CA401492400 |
73 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA295099144 rs868431560 |
73 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8842022 rs189736697 VAR_085614 |
76 | T>M | no effect on glucagon-elicited cAMP production [UniProt] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt |
|
CA295099182 rs899064710 |
79 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA295099158 rs1038824634 |
79 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1453383640 CA401492668 |
82 | P>L | No |
ClinGen gnomAD |
|
|
CA401492654 rs1378394827 |
82 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs2229153 CA295099202 |
84 | Y>D | No |
ClinGen Ensembl |
|
|
rs1598237321 CA401492736 |
84 | Y>S | No |
ClinGen Ensembl |
|
|
CA8842024 rs755602452 |
88 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164994335 CA401493100 |
93 | H>P | No |
ClinGen TOPMed |
|
|
CA401493105 rs1222169977 |
93 | H>Q | No |
ClinGen gnomAD |
|
|
rs552010052 CA8842039 |
94 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA295099352 rs1022912945 |
94 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs756454904 CA401493153 |
96 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8842041 rs756454904 |
96 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA401493139 rs1240225006 |
96 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA401493183 rs1253073377 |
98 | K>R | No |
ClinGen gnomAD |
|
|
rs1193513499 CA401493200 |
99 | R>S | No |
ClinGen gnomAD |
|
|
CA295099386 rs1039904981 |
99 | R>T | No |
ClinGen TOPMed |
|
|
CA295099404 rs373865736 |
101 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 101 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 102 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401493242 rs779580966 |
103 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779580966 CA8842045 |
103 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401493259 rs1377157654 |
104 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1451404133 CA401493268 |
105 | Q>* | No |
ClinGen gnomAD |
|
|
CA295099466 rs958325026 |
107 | V>L | No |
ClinGen TOPMed |
|
|
CA401493310 rs1312508282 |
108 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs531183455 CA295099480 |
109 | G>R | No |
ClinGen 1000Genomes |
|
|
rs1228449257 CA401493331 |
110 | P>H | No |
ClinGen gnomAD |
|
|
rs1043477675 CA295099481 |
110 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA295099495 rs28522411 |
111 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8842046 COSM3821013 rs28522411 |
111 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1272192802 CA401493341 |
111 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1258411324 CA401493356 |
112 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA401493378 rs1372556587 |
113 | Q>R | No |
ClinGen gnomAD |
|
|
VAR_014837 CA8842047 rs5385 |
114 | P>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA295099498 rs5385 |
114 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401493413 rs1235960477 |
115 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1473810541 CA401493421 |
115 | W>* | No |
ClinGen gnomAD |
|
|
CA401493418 rs1235960477 |
115 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
CA401493415 rs1235960477 |
115 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
CA401493433 rs1364717865 |
116 | R>C | No |
ClinGen TOPMed |
|
|
CA295099501 rs567794794 |
116 | R>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1271662476 CA401493485 |
119 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1305456353 CA401493514 |
120 | Q>R | No |
ClinGen gnomAD |
|
|
CA401493540 rs1431639891 |
121 | C>Y | No |
ClinGen TOPMed |
|
|
rs780610679 CA8842048 |
123 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA295099506 rs535086486 |
123 | M>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs745508664 CA8842049 |
124 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8842050 rs529078630 |
125 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA295099536 rs889041091 |
126 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8842052 rs181081681 |
128 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1008826316 CA295099541 |
130 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA401493793 rs536878804 |
132 | K>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 133 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1229061446 CA401493797 |
133 | E>K | No |
ClinGen TOPMed |
|
|
rs1229061446 CA401493798 |
133 | E>Q | No |
ClinGen TOPMed |
|
|
rs914778371 CA295099695 |
134 | V>G | No |
ClinGen Ensembl |
|
|
CA295099693 rs555106408 |
134 | V>M | No |
ClinGen 1000Genomes |
|
|
CA295099697 rs573421080 |
135 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs947568418 CA295099713 |
137 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA401493905 rs1490347408 |
139 | S>N | No |
ClinGen gnomAD |
|
|
rs754197868 CA8842060 |
140 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1478580187 CA401493963 |
141 | F>L | No |
ClinGen gnomAD |
|
|
CA295099722 rs868372915 |
141 | F>L | No |
ClinGen Ensembl |
|
|
CA401494014 rs1157583633 |
143 | V>A | No |
ClinGen gnomAD |
|
|
rs992477377 CA295099745 |
144 | M>I | No |
ClinGen TOPMed |
|
|
CA401494068 rs1269119839 |
145 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA401494143 rs1420954588 |
146 | T>R | No |
ClinGen gnomAD |
|
|
rs540678391 CA295099760 |
150 | S>N | No |
ClinGen 1000Genomes |
|
|
CA401494283 rs1384946984 |
151 | L>M | No |
ClinGen gnomAD |
|
|
CA401494286 rs1384946984 |
151 | L>V | No |
ClinGen gnomAD |
|
|
rs755419233 CA8842061 |
155 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1308768319 CA401494439 |
155 | A>V | No |
ClinGen gnomAD |
|
|
rs902279512 CA295099796 |
157 | L>H | No |
ClinGen TOPMed |
|
|
rs902279512 CA295099797 |
157 | L>P | No |
ClinGen TOPMed |
|
|
rs758874938 CA8842064 |
159 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355739079 CA401494634 |
161 | A>T | No |
ClinGen gnomAD |
|
|
rs896113818 CA295099831 |
164 | G>R | No |
ClinGen TOPMed |
|
|
rs1044952705 CA295099840 |
165 | G>A | No |
ClinGen TOPMed |
|
|
rs1044952705 CA295099835 |
165 | G>D | No |
ClinGen TOPMed |
|
|
CA401494782 rs1222914520 |
165 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 166 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1241628118 CA401494819 |
166 | L>R | No |
ClinGen gnomAD |
|
|
rs1385535030 CA401494839 |
167 | S>N | No |
ClinGen TOPMed |
|
|
CA295099971 CA401494959 rs969354907 |
167 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1315009031 CA401495002 |
170 | H>Y | No |
ClinGen gnomAD |
|
|
CA401495073 rs1276893614 |
172 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs977633447 CA295099991 |
172 | T>P | No |
ClinGen Ensembl |
|
|
CA401495081 rs867133127 |
173 | R>C | No |
ClinGen gnomAD |
|
|
rs867051527 CA295099998 |
173 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs867051527 CA401495092 |
173 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs867133127 CA295099993 |
173 | R>S | No |
ClinGen gnomAD |
|
|
CA401495098 rs1255016906 |
174 | N>D | No |
ClinGen gnomAD |
|
|
rs1482107974 CA401495121 |
175 | A>T | No |
ClinGen gnomAD |
|
|
rs1201839849 CA401495133 |
175 | A>V | No |
ClinGen gnomAD |
|
|
rs1487695265 CA401495200 |
178 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs571642081 CA295100024 |
178 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs756243536 CA401495243 |
179 | N>D | No |
ClinGen gnomAD |
|
|
CA295100060 rs1027790160 |
179 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs756243536 CA295100047 |
179 | N>Y | No |
ClinGen gnomAD |
|
|
rs550681728 CA295100066 |
182 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA295100081 rs951819372 |
183 | S>F | No |
ClinGen TOPMed |
|
|
CA401495388 rs1225544346 |
185 | V>M | No |
ClinGen TOPMed |
|
|
CA401495439 rs1399499869 |
187 | K>E | No |
ClinGen gnomAD |
|
|
rs1296860048 CA401495498 |
189 | S>I | No |
ClinGen gnomAD |
|
|
CA295100108 rs1044985218 |
191 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA401495588 rs1457619135 |
193 | V>D | No |
ClinGen TOPMed |
|
|
rs1481186146 CA401495614 |
194 | I>T | No |
ClinGen TOPMed |
|
|
rs985911098 CA295100144 |
194 | I>V | No |
ClinGen TOPMed |
|
|
rs1310818080 CA401495756 |
200 | T>A | No |
ClinGen gnomAD |
|
|
rs1234915081 CA401495765 |
200 | T>I | No |
ClinGen gnomAD |
|
|
rs1310818080 CA401495760 |
200 | T>S | No |
ClinGen gnomAD |
|
|
rs1352305594 CA401495788 |
201 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA401495791 rs1213878850 |
201 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA401495808 rs1217101987 |
202 | Y>C | No |
ClinGen TOPMed |
|
|
CA401495888 rs1190563230 CA401495885 |
204 | Q>H | No |
ClinGen gnomAD |
|
|
CA401495876 rs1488610176 |
204 | Q>R | No |
ClinGen gnomAD |
|
|
CA401495929 rs1264921069 |
205 | K>N | No |
ClinGen gnomAD |
|
|
rs1434718027 CA401495951 |
206 | I>T | No |
ClinGen gnomAD |
|
|
rs1266577758 CA401495970 |
207 | G>D | No |
ClinGen TOPMed |
|
|
CA401495989 rs1419135924 |
208 | D>G | No |
ClinGen gnomAD |
|
|
rs1378474345 CA401495977 |
208 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1401075459 CA401496038 |
209 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8842088 rs754634656 |
209 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1293495447 CA401496052 |
210 | L>F | No |
ClinGen gnomAD |
|
|
CA401496187 rs1301503565 |
215 | W>R | No |
ClinGen gnomAD |
|
|
CA401496227 rs1375779374 |
216 | L>F | No |
ClinGen gnomAD |
|
|
rs1364149168 CA401496248 |
217 | S>R | No |
ClinGen TOPMed |
|
|
rs762346408 CA401497304 |
220 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8842103 rs762346408 |
220 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380723289 CA401497343 |
221 | V>A | No |
ClinGen gnomAD |
|
|
rs753414714 CA8842105 |
221 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA295100281 rs753414714 |
221 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 223 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401497424 rs1228744881 |
224 | C>Y | No |
ClinGen gnomAD |
|
|
rs1315813878 CA401497449 |
225 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs371217388 CA401497460 |
225 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373598736 CA8842108 |
228 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8842109 rs758161776 |
228 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1423606565 CA401497591 |
229 | V>G | No |
ClinGen gnomAD |
|
|
rs561479377 CA8842111 |
229 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA295100334 rs528738808 |
231 | M>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1047414399 CA295100344 |
232 | Q>R | No |
ClinGen Ensembl |
|
|
rs550072079 CA295100370 |
233 | Y>C | No |
ClinGen Ensembl |
|
|
rs886976203 CA401497743 |
234 | G>D | No |
ClinGen gnomAD |
|
|
rs886976203 CA295100379 |
234 | G>V | No |
ClinGen gnomAD |
|
|
rs781413720 CA8842113 |
236 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401497901 rs1297475505 |
239 | Y>C | No |
ClinGen gnomAD |
|
|
rs975953807 CA295100402 |
240 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA401497926 rs975953807 |
240 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA295100417 rs867191607 |
241 | W>R | No |
ClinGen Ensembl |
|
|
rs1278539614 CA401497988 |
242 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA401498054 rs1276798780 |
244 | V>A | No |
ClinGen gnomAD |
|
|
CA8842116 rs775595105 |
249 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA401498211 rs1458824170 |
250 | H>Y | No |
ClinGen TOPMed |
|
|
CA401498236 rs1242988043 |
251 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs749623311 CA8842117 |
251 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401498234 rs1242988043 |
251 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1271089900 CA401498277 |
254 | G>A | No |
ClinGen TOPMed |
|
|
CA401498267 rs1358089389 |
254 | G>R | No |
ClinGen gnomAD |
|
|
CA401498293 rs1318929566 |
255 | L>P | No |
ClinGen gnomAD |
|
|
CA401498319 rs1330246672 |
256 | A>V | No |
ClinGen gnomAD |
|
|
CA401498345 rs1373549347 |
258 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA401498368 rs1235094308 |
258 | L>P | No |
ClinGen gnomAD |
|
|
rs1351603095 CA401498391 |
259 | P>L | No |
ClinGen gnomAD |
|
|
CA401498399 rs999148337 |
260 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA295100479 rs999148337 |
260 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA401498395 rs999148337 |
260 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs918016123 CA295100480 |
261 | R>K | No |
ClinGen TOPMed |
|
|
CA401498477 rs1197285173 |
262 | S>I | No |
ClinGen gnomAD |
|
|
CA8842122 rs776062273 |
262 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1568253337 CA401498459 |
262 | S>R | No |
ClinGen Ensembl |
|
|
rs1348115643 CA401498520 |
263 | F>C | No |
ClinGen TOPMed |
|
|
rs1454402740 CA401498595 |
266 | L>I | No |
ClinGen gnomAD |
|
|
rs758992810 CA8842123 |
267 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1037221263 CA295100487 |
270 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs550972775 CA295100520 |
271 | G>A | No |
ClinGen 1000Genomes gnomAD |
|
|
rs995806123 CA295100515 |
271 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA295100652 rs772983197 |
274 | A>G | No |
ClinGen Ensembl |
|
|
rs772983197 CA401501049 |
274 | A>V | No |
ClinGen Ensembl |
|
|
rs1598238788 CA401501086 |
275 | P>L | No |
ClinGen Ensembl |
|
|
rs1439311133 CA401501198 |
279 | V>I | No |
ClinGen gnomAD |
|
|
CA8842131 rs548905669 |
280 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401501288 rs1243202852 |
281 | P>H | No |
ClinGen gnomAD |
|
|
rs1295681226 CA401501317 |
282 | W>* | No |
ClinGen gnomAD |
|
|
rs1218451512 CA401501431 |
285 | V>I | No |
ClinGen gnomAD |
|
|
rs1366403753 CA401501535 |
287 | C>G | No |
ClinGen TOPMed |
|
|
CA8842132 rs781285550 |
287 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401501645 rs1440223162 |
290 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8842133 rs200674527 |
290 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401501730 rs908475371 |
292 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1168349939 CA401501742 |
292 | V>G | No |
ClinGen gnomAD |
|
|
CA295100731 rs908475371 |
292 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA401501998 rs1286468683 |
294 | C>Y | No |
ClinGen TOPMed |
|
|
rs575272671 CA295101031 |
297 | S>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs575272671 CA401502152 |
297 | S>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs761720188 CA8842151 |
299 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA401502312 rs1262474272 |
301 | M>I | No |
ClinGen gnomAD |
|
|
CA401502310 rs1214298781 |
301 | M>T | No |
ClinGen gnomAD |
|
|
CA295101054 rs976661354 |
301 | M>V | No |
ClinGen TOPMed |
|
|
CA295101073 rs5387 VAR_033966 |
303 | F>C | No |
ClinGen UniProt TOPMed dbSNP |
|
|
rs5387 CA295101061 |
303 | F>S | No |
ClinGen TOPMed |
|
|
CA295101079 rs911455809 |
304 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs373391581 CA8842152 |
307 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1209087661 CA401502550 |
308 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1266924744 CA401502575 |
308 | R>L | No |
ClinGen gnomAD |
|
|
rs1209087661 CA401502544 |
308 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA401502616 rs1195738034 |
310 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM3362409 rs377519283 CA8842154 |
311 | V>I | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA401502729 rs1454621277 |
315 | I>M | No |
ClinGen gnomAD |
|
|
CA401502722 rs1198742291 |
315 | I>N | No |
ClinGen TOPMed |
|
|
rs774799702 CA8842165 |
319 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223567514 CA401502940 |
319 | F>Y | No |
ClinGen TOPMed |
|
|
CA295101344 rs1049700509 |
320 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs762562348 CA8842166 |
322 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256072758 CA401503023 |
322 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 323 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8842167 rs151274323 |
323 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371422062 CA295101353 |
324 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA401503091 rs1172127702 |
324 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA401503101 rs1453657226 |
325 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA401503130 rs1163082481 |
326 | V>A | No |
ClinGen TOPMed |
|
|
rs538739071 CA8842169 COSM1208018 |
326 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1446709665 CA401503164 |
327 | Q>* | No |
ClinGen gnomAD |
|
|
rs997868355 CA295101358 |
327 | Q>R | No |
ClinGen Ensembl |
|
|
rs1310958309 CA401503192 |
328 | L>P | No |
ClinGen gnomAD |
|
|
CA401503187 rs1310958309 |
328 | L>Q | No |
ClinGen gnomAD |
|
|
CA295101369 rs371777245 |
330 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1277265410 CA401503253 |
331 | A>T | No |
ClinGen gnomAD |
|
|
CA401503298 rs1417385628 |
332 | K>N | No |
ClinGen TOPMed |
|
|
rs1338189422 CA401503316 |
333 | L>R | No |
ClinGen gnomAD |
|
|
CA295101391 rs922855912 |
334 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs976902380 CA295101378 |
334 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA295101392 rs954105221 |
335 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
VAR_085617 CA8842172 rs531523452 |
336 | R>Q | no effect on glucagon-elicited cAMP production [UniProt] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD UniProt |
|
rs568466743 CA295101394 |
336 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs923638581 CA295101417 |
338 | M>I | No |
ClinGen TOPMed |
|
|
rs1486905557 CA401503510 |
339 | H>R | No |
ClinGen gnomAD |
|
|
rs867123159 CA295101422 |
340 | H>Y | No |
ClinGen Ensembl |
|
|
rs936322272 CA295101430 |
341 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA401503704 rs1419839154 |
346 | R>Q | No |
ClinGen gnomAD |
|
|
rs766354711 CA8842173 |
346 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401503880 rs1211413966 |
348 | A>G | No |
ClinGen gnomAD |
|
|
CA295101663 rs867634648 |
348 | A>T | No |
ClinGen Ensembl |
|
|
CA401504037 rs1361576793 |
353 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs748764343 CA8842183 |
358 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412736775 CA401504224 |
359 | G>D | No |
ClinGen gnomAD |
|
|
rs978118361 CA295101675 |
360 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1441715310 CA401504310 |
362 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA401504314 rs1441715310 |
362 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs370541643 CA8842185 |
366 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs947813160 CA295101699 |
369 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA401504637 rs1598240155 |
370 | D>A | No |
ClinGen Ensembl |
|
|
CA295101720 rs930645674 |
370 | D>Y | No |
ClinGen Ensembl |
|
|
CA401504660 rs1335016020 |
371 | E>K | No |
ClinGen gnomAD |
|
|
CA401504702 rs1197633258 |
372 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA401504698 rs1197633258 |
372 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1439063828 CA401504739 |
373 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA401504744 rs1439063828 |
373 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1182403822 CA401504754 |
373 | A>V | No |
ClinGen gnomAD |
|
|
CA401504767 rs1272915623 |
374 | Q>R | No |
ClinGen TOPMed |
|
|
rs1313639238 CA401504771 |
375 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8842190 rs372612289 |
376 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401504807 rs372612289 |
376 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1474100584 CA401504831 |
378 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA401504835 rs1166903170 |
378 | R>H | No |
ClinGen gnomAD |
|
|
rs377211796 CA8842192 |
380 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1355452290 CA401505116 |
385 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs752844034 CA8842194 |
391 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226174606 CA401505415 |
392 | Q>* | No |
ClinGen gnomAD |
|
|
rs376353664 CA295101868 |
393 | G>S | No |
ClinGen ESP |
|
|
rs1396277104 CA401506370 |
395 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1287425806 CA401506961 |
396 | V>E | No |
ClinGen gnomAD |
|
|
rs747664695 CA8842204 |
398 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1458636561 CA401507060 |
399 | L>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 403 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401507415 rs1253368710 |
407 | V>M | No |
ClinGen gnomAD |
|
|
CA401507454 rs1473117013 |
408 | Q>* | No |
ClinGen gnomAD |
|
|
rs1327302615 CA401507461 |
408 | Q>P | No |
ClinGen TOPMed |
|
|
rs527317042 CA401507494 |
409 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1187609450 CA401507487 |
409 | S>P | No |
ClinGen gnomAD |
|
|
rs527317042 CA8842218 |
409 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401507549 rs1314672209 |
410 | E>D | No |
ClinGen TOPMed |
|
|
CA8842221 rs775647518 |
412 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1589307 CA295102336 rs775647518 |
412 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs552133484 CA8842220 |
412 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA295102358 rs887645895 |
413 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8842222 rs757894502 |
413 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538504452 CA8842223 VAR_085619 |
414 | R>H | no effect on glucagon-elicited cAMP production [UniProt] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD UniProt |
|
CA401507639 rs1374040087 |
414 | R>S | No |
ClinGen gnomAD |
|
|
CA295102382 rs1036169346 |
415 | W>* | No |
ClinGen Ensembl |
|
|
CA401507683 rs1258938272 |
415 | W>* | No |
ClinGen TOPMed |
|
|
rs878968533 CA295102373 |
415 | W>R | No |
ClinGen Ensembl |
|
|
CA8842225 rs137897678 |
416 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs137897678 VAR_085620 CA8842224 |
416 | H>R | no effect on glucagon-elicited cAMP production [UniProt] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD UniProt |
|
CA401507706 rs1357168725 |
416 | H>Y | No |
ClinGen gnomAD |
|
|
rs1306988530 CA401507735 |
417 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA295102392 rs893269823 |
417 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA295102396 rs558491682 |
419 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8842229 rs769673542 |
419 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs769673542 CA8842228 |
419 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA8842227 rs558491682 |
419 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 420 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1598241030 CA401507902 |
422 | K>E | No |
ClinGen Ensembl |
|
|
rs1030377149 CA295102403 |
422 | K>R | No |
ClinGen Ensembl |
|
|
CA401507960 rs1222479831 |
423 | V>L | No |
ClinGen gnomAD |
|
|
rs1487455874 CA401508005 |
424 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA401508049 rs1426204656 |
425 | W>* | No |
ClinGen gnomAD |
|
|
rs1171829126 CA401508154 |
428 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs61734385 CA8842231 VAR_085621 |
428 | R>Q | no effect on glucagon-elicited cAMP production [UniProt] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt |
|
rs1171829126 CA401508168 |
428 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1598241082 CA401508225 |
430 | T>A | No |
ClinGen Ensembl |
|
|
rs1311017995 CA401508234 |
430 | T>I | No |
ClinGen gnomAD |
|
|
CA401508335 rs1419560347 |
433 | H>D | No |
ClinGen TOPMed |
|
|
CA401508341 rs1377024369 |
433 | H>P | No |
ClinGen gnomAD |
|
|
rs1377024369 CA401508348 |
433 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 437 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs545914836 CA8842232 VAR_085622 |
438 | S>L | no effect on glucagon-elicited cAMP production [UniProt] | No |
ClinGen 1000Genomes ExAC gnomAD UniProt |
|
rs183571856 CA8842234 |
440 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs183571856 CA8842233 |
440 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401508647 rs1184549174 |
441 | H>P | No |
ClinGen TOPMed |
|
|
rs1021042497 CA295102441 |
442 | G>S | No |
ClinGen gnomAD |
|
|
CA295102443 rs188519815 |
442 | G>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1211330325 CA401508737 |
443 | P>S | No |
ClinGen gnomAD |
|
|
rs1187930393 CA401508950 |
447 | E>D | No |
ClinGen gnomAD |
|
|
CA295102451 rs981152634 |
447 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA295102452 rs760905204 |
448 | L>P | No |
ClinGen TOPMed |
|
|
rs1390201837 CA401509057 |
449 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA401509144 rs1232795692 |
451 | G>A | No |
ClinGen TOPMed |
|
|
rs1453320474 CA401509117 |
451 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8842236 rs761153740 |
452 | R>K | No |
ClinGen ExAC |
|
|
rs1568255406 CA401509206 |
453 | G>C | No |
ClinGen Ensembl |
|
|
rs1396876164 CA401509327 |
455 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA401509348 rs1414985683 |
455 | G>V | No |
ClinGen gnomAD |
|
|
rs766891858 CA8842237 |
456 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA295102470 rs936989263 |
457 | Q>* | No |
ClinGen gnomAD |
|
|
CA8842238 rs754349828 |
457 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401509564 rs1365987180 |
458 | D>E | No |
ClinGen gnomAD |
|
|
RCV000966044 CA8842239 rs138492107 VAR_085623 |
458 | D>H | no effect on glucagon-elicited cAMP production [UniProt] | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD UniProt |
|
rs1444287207 CA401509570 |
459 | S>P | No |
ClinGen TOPMed |
|
|
CA8842240 rs13306383 VAR_085624 |
461 | A>V | no effect on glucagon-elicited cAMP production [UniProt] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD UniProt |
|
CA401509798 rs1220319020 |
463 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 465 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8842243 rs780849172 |
469 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs975232367 CA295102536 |
473 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA401510242 rs1229366876 |
474 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 474 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1283696557 CA401510283 |
475 | S>R | No |
ClinGen gnomAD |
|
|
rs745618150 VAR_085625 CA8842244 |
476 | P>L | no effect on glucagon-elicited cAMP production [UniProt] | No |
ClinGen ExAC TOPMed gnomAD UniProt |
1 associated diseases with P47871
[MIM: 619290]: Mahvash disease (MVAH)
An autosomal recessive disorder characterized by alpha-cell hyperplasia of the pancreas, hyperglucagonemia without glucagonoma syndrome, aminoacidemia, and occasional hypoglycemia. The disease may lead to glucagonomas and/or primitive neuroectodermal tumors. {ECO:0000269|PubMed:19657311, ECO:0000269|PubMed:23863937, ECO:0000269|PubMed:25695890, ECO:0000269|PubMed:30032256, ECO:0000269|PubMed:30294546, ECO:0000269|PubMed:32677665}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by alpha-cell hyperplasia of the pancreas, hyperglucagonemia without glucagonoma syndrome, aminoacidemia, and occasional hypoglycemia. The disease may lead to glucagonomas and/or primitive neuroectodermal tumors. {ECO:0000269|PubMed:19657311, ECO:0000269|PubMed:23863937, ECO:0000269|PubMed:25695890, ECO:0000269|PubMed:30032256, ECO:0000269|PubMed:30294546, ECO:0000269|PubMed:32677665}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for P47871
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GPCR, family 2, extracellular hormone receptor domain | 42 - 130 | IPR001879 |
| domain | GPCR, family 2-like, transmembrane domain | 141 - 404 | IPR017981 |
| conserved_site | GPCR, family 2, secretin-like, conserved site | 58 - 82 | IPR017983-1 |
| conserved_site | GPCR, family 2, secretin-like, conserved site | 392 - 407 | IPR017983-2 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| G protein-coupled peptide receptor activity | Combining with a peptide and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
| glucagon receptor activity | Combining with glucagon and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
| peptide hormone binding | Binding to a peptide with hormonal activity in animals. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| adenylate cyclase-activating G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of adenylyl cyclase activity and a subsequent increase in the intracellular concentration of cyclic AMP (cAMP). |
| adenylate cyclase-modulating G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation or inhibition of adenylyl cyclase activity and a subsequent change in the intracellular concentration of cyclic AMP (cAMP). |
| cell surface receptor signaling pathway | The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
| cellular response to glucagon stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucagon stimulus. |
| cellular response to starvation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of nourishment. |
| exocytosis | A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. |
| generation of precursor metabolites and energy | The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. |
| glucose homeostasis | Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. |
| hormone-mediated signaling pathway | The series of molecular signals mediated by the detection of a hormone. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| regulation of blood pressure | Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. |
| regulation of glycogen metabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving glycogen. |
| response to nutrient | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus. |
| response to starvation | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a starvation stimulus, deprivation of nourishment. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32241 | VIPR1 | Vasoactive intestinal polypeptide receptor 1 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPPCQPQRPL | LLLLLLLACQ | PQVPSAQVMD | FLFEKWKLYG | DQCHHNLSLL | PPPTELVCNR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TFDKYSCWPD | TPANTTANIS | CPWYLPWHHK | VQHRFVFKRC | GPDGQWVRGP | RGQPWRDASQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CQMDGEEIEV | QKEVAKMYSS | FQVMYTVGYS | LSLGALLLAL | AILGGLSKLH | CTRNAIHANL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FASFVLKASS | VLVIDGLLRT | RYSQKIGDDL | SVSTWLSDGA | VAGCRVAAVF | MQYGIVANYC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WLLVEGLYLH | NLLGLATLPE | RSFFSLYLGI | GWGAPMLFVV | PWAVVKCLFE | NVQCWTSNDN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MGFWWILRFP | VFLAILINFF | IFVRIVQLLV | AKLRARQMHH | TDYKFRLAKS | TLTLIPLLGV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HEVVFAFVTD | EHAQGTLRSA | KLFFDLFLSS | FQGLLVAVLY | CFLNKEVQSE | LRRRWHRWRL |
| 430 | 440 | 450 | 460 | 470 | |
| GKVLWEERNT | SNHRASSSPG | HGPPSKELQF | GRGGGSQDSS | AETPLAGGLP | RLAESPF |